ClinVar Miner

List of variants studied for Noonan syndrome 4 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs) rs387906518

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